Chiari type I malformation in children and adolescents with cystic fibrosis

Chiari type I malformation is characterized by herniation of the cerebellar tonsils through the foramen magnum. An association between Chiari type I m alformation and cystic fibrosis (CF) has not previously been established. W e report on five children and adolescents with CF in whom Chiari type I mal formations were diagnosed. Three patients were 17-18 years old at time of diagnosis, one was 3 years o ld, and one was 10 months of age. All patients were followed at the Cystic Fibrosis Center at St. Christopher's Hospital for Children and were diagnos ed with the malformations between June 1988 and June 1997. Over this same p eriod, 400 CF patients 18 years or younger were followed routinely. All pat ients had the diagnosis of Chiari type I confirmed by brain-stem MRI. Neuro logic findings included swallowing dysfunction, syncopal episodes, numbness of extremities, recurrent vomiting, and headaches. No two patients had the same presenting neurologic findings. Our data suggest that Chiari type I malformation is more common in CF than in the general population. The possibility of Chiari type I malformation sh ould be included in the differential diagnosis of unexplained neurologic co mplaints in patients with CF. Pediatr Pulmonol. 2000; 39:499-492. (C) 2000 Wiley-Liss, Inc.